Gaucher Disease

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Gaucher disease facts*

Gaucher disease is an inherited disorder of metabolism that interferes with many body functions.

There are different forms of Gaucher disease.

The perinatal lethal form is the most severe type of Gaucher disease.

Enlargement of the
liver and spleen,
anemia, bone abnormalities, and low platelet levels are among the symptoms of Gaucher disease.

Gaucher disease occurs in 1 out of every 50,000 to 100,000 people and is more common in people with Ashkenazi Jewish heritage.
Gaucher disease is inherited in an autosomal recessive fashion.

Mutations in the GBA gene cause a defect in the enzyme beta-glucocerebrosidase, leading to a buildup of glucocerebroside within cells.

Enzyme replacement therapy is a treatment option for some people with Gaucher disease.

The most common form of the condition is Gaucher disease type 1.

What is Gaucher disease?

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

Type 1 Gaucher disease signs and symptoms

Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and
spleen (hepatosplenomegaly), a low number of red blood cells (anemia),
easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain,
fractures, and arthritis.

Types 2 and 3 Gaucher disease signs and symptoms

Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements,
seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2.

Perinatal Gaucher disease

The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.

Cardiovascular type Gaucher disease signs and symptoms

Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).